Incidental Mutation 'R7503:Pomgnt1'
| ID |
581609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomgnt1
|
| Ensembl Gene |
ENSMUSG00000028700 |
| Gene Name |
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase |
| Synonyms |
0610016I07Rik, 4930467B06Rik |
| MMRRC Submission |
045576-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7503 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116007700-116017041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116009949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
|
| AlphaFold |
Q91X88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106494
AA Change: V111A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
106 |
195 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
271 |
591 |
3e-52 |
PFAM |
|
low complexity region
|
623 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106496
AA Change: V133A
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
129 |
217 |
5e-10 |
PDB |
|
Pfam:GNT-I
|
260 |
580 |
2.9e-52 |
PFAM |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106498
AA Change: V133A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
129 |
217 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
293 |
613 |
3.2e-52 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120083
AA Change: V133A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:ILEI
|
129 |
220 |
8.9e-28 |
PFAM |
|
Pfam:GNT-I
|
293 |
612 |
1.9e-51 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121052
AA Change: V133A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
129 |
217 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
293 |
613 |
3.2e-52 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1815 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
PHENOTYPE: Surviving homozygous null mice display a mild dystrophy despite a reduced muscle mass and myofiber number, impaired muscle regeneration and low proliferative activity of satellite cells. Mice homozygous for a gene trap allele show reduced fertility and multiple defects in muscle, eye and brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
G |
A |
8: 12,329,554 (GRCm39) |
G3D |
unknown |
Het |
| Aif1 |
A |
T |
17: 35,390,549 (GRCm39) |
I67N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,749,441 (GRCm39) |
D982G |
|
Het |
| Anpep |
A |
G |
7: 79,476,385 (GRCm39) |
L827P |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,933 (GRCm39) |
K561N |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,158,493 (GRCm39) |
F24S |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,069,995 (GRCm39) |
D661G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,783,056 (GRCm39) |
I618V |
unknown |
Het |
| Cfap251 |
G |
T |
5: 123,435,521 (GRCm39) |
E994* |
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,723,298 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,758,952 (GRCm39) |
I33F |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,922 (GRCm39) |
H827Y |
probably damaging |
Het |
| Eif3i |
C |
T |
4: 129,494,207 (GRCm39) |
D31N |
probably damaging |
Het |
| Eno1b |
A |
T |
18: 48,179,878 (GRCm39) |
T19S |
probably damaging |
Het |
| Eva1a |
G |
A |
6: 82,048,210 (GRCm39) |
W29* |
probably null |
Het |
| Evc |
T |
C |
5: 37,458,111 (GRCm39) |
K803R |
unknown |
Het |
| F5 |
T |
A |
1: 164,019,779 (GRCm39) |
N751K |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,102,723 (GRCm39) |
N177K |
probably benign |
Het |
| Farp2 |
T |
G |
1: 93,495,219 (GRCm39) |
I164R |
probably benign |
Het |
| Gm20379 |
C |
T |
13: 92,442,565 (GRCm39) |
P26L |
|
Het |
| Hmgcs2 |
T |
C |
3: 98,209,940 (GRCm39) |
S433P |
probably damaging |
Het |
| Inava |
T |
C |
1: 136,143,675 (GRCm39) |
D587G |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,122,881 (GRCm39) |
T633A |
probably benign |
Het |
| Invs |
C |
T |
4: 48,396,347 (GRCm39) |
T340M |
probably damaging |
Het |
| Mef2c |
A |
C |
13: 83,810,623 (GRCm39) |
D391A |
possibly damaging |
Het |
| Msh4 |
A |
C |
3: 153,573,387 (GRCm39) |
S756A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,080,218 (GRCm39) |
T490A |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,761 (GRCm39) |
|
probably null |
Het |
| Nsmce1 |
A |
G |
7: 125,071,106 (GRCm39) |
S107P |
probably benign |
Het |
| Or52a24 |
T |
A |
7: 103,381,474 (GRCm39) |
S114T |
probably damaging |
Het |
| Or5d43 |
T |
C |
2: 88,105,039 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pcdhb21 |
G |
A |
18: 37,648,028 (GRCm39) |
D386N |
probably benign |
Het |
| Pcdhb22 |
T |
G |
18: 37,652,155 (GRCm39) |
L208V |
probably benign |
Het |
| Pigu |
C |
T |
2: 155,173,064 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,936,474 (GRCm39) |
E585V |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,873,544 (GRCm39) |
C183* |
probably null |
Het |
| Prl3d3 |
A |
G |
13: 27,345,096 (GRCm39) |
Y156C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,100,167 (GRCm39) |
D280G |
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,785,881 (GRCm39) |
A631S |
probably benign |
Het |
| Runx3 |
C |
A |
4: 134,882,679 (GRCm39) |
N138K |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,715,038 (GRCm39) |
D750G |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,853 (GRCm39) |
L347P |
probably damaging |
Het |
| Slc25a1 |
G |
T |
16: 17,744,303 (GRCm39) |
Y209* |
probably null |
Het |
| Smad2 |
A |
G |
18: 76,419,956 (GRCm39) |
S88G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,141,490 (GRCm39) |
C1125R |
probably benign |
Het |
| Spata21 |
T |
A |
4: 140,822,614 (GRCm39) |
I140N |
probably benign |
Het |
| Speer3 |
A |
T |
5: 13,843,348 (GRCm39) |
D85V |
probably benign |
Het |
| Spopfm1 |
A |
T |
3: 94,173,780 (GRCm39) |
M259L |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,058,528 (GRCm39) |
N463S |
possibly damaging |
Het |
| Tmem14a |
T |
G |
1: 21,299,623 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
T |
A |
2: 28,577,088 (GRCm39) |
L1130Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,611,401 (GRCm39) |
D17377G |
possibly damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,046 (GRCm39) |
D87G |
probably damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,447,372 (GRCm39) |
Q565* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,583,014 (GRCm39) |
M67K |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,933,510 (GRCm39) |
Y357H |
not run |
Het |
| Vmn2r97 |
A |
G |
17: 19,148,470 (GRCm39) |
T122A |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,488,248 (GRCm39) |
E753G |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,204,834 (GRCm39) |
N213S |
probably benign |
Het |
| Xdh |
A |
C |
17: 74,233,205 (GRCm39) |
D207E |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,554,678 (GRCm39) |
I552N |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,716,893 (GRCm39) |
I361K |
probably damaging |
Het |
|
| Other mutations in Pomgnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Pomgnt1
|
APN |
4 |
116,009,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Pomgnt1
|
APN |
4 |
116,010,105 (GRCm39) |
nonsense |
probably null |
|
|
IGL02582:Pomgnt1
|
APN |
4 |
116,015,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pomegranate
|
UTSW |
4 |
116,012,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Pomgnt1
|
UTSW |
4 |
116,015,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0688:Pomgnt1
|
UTSW |
4 |
116,013,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0890:Pomgnt1
|
UTSW |
4 |
116,009,382 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0927:Pomgnt1
|
UTSW |
4 |
116,009,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Pomgnt1
|
UTSW |
4 |
116,012,472 (GRCm39) |
splice site |
probably null |
|
|
R1983:Pomgnt1
|
UTSW |
4 |
116,009,117 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1983:Pomgnt1
|
UTSW |
4 |
116,009,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Pomgnt1
|
UTSW |
4 |
116,015,124 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3721:Pomgnt1
|
UTSW |
4 |
116,010,740 (GRCm39) |
splice site |
probably benign |
|
|
R3774:Pomgnt1
|
UTSW |
4 |
116,011,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3775:Pomgnt1
|
UTSW |
4 |
116,011,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3816:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3817:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3818:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4447:Pomgnt1
|
UTSW |
4 |
116,010,120 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4583:Pomgnt1
|
UTSW |
4 |
116,015,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4616:Pomgnt1
|
UTSW |
4 |
116,012,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Pomgnt1
|
UTSW |
4 |
116,012,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Pomgnt1
|
UTSW |
4 |
116,011,412 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4719:Pomgnt1
|
UTSW |
4 |
116,012,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Pomgnt1
|
UTSW |
4 |
116,013,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Pomgnt1
|
UTSW |
4 |
116,013,453 (GRCm39) |
intron |
probably benign |
|
|
R5569:Pomgnt1
|
UTSW |
4 |
116,013,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Pomgnt1
|
UTSW |
4 |
116,012,933 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5937:Pomgnt1
|
UTSW |
4 |
116,011,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6052:Pomgnt1
|
UTSW |
4 |
116,008,799 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6745:Pomgnt1
|
UTSW |
4 |
116,011,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6949:Pomgnt1
|
UTSW |
4 |
116,011,351 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7876:Pomgnt1
|
UTSW |
4 |
116,015,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Pomgnt1
|
UTSW |
4 |
116,009,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9415:Pomgnt1
|
UTSW |
4 |
116,013,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Pomgnt1
|
UTSW |
4 |
115,994,624 (GRCm39) |
unclassified |
probably benign |
|
|
T0975:Pomgnt1
|
UTSW |
4 |
115,994,624 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Pomgnt1
|
UTSW |
4 |
116,009,906 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGCCTTCTGTCTGAGTTAG -3'
(R):5'- ACCTTCACCGTGCAGATCAG -3'
Sequencing Primer
(F):5'- CTGTCTGAGTTAGAACCGTAGAC -3'
(R):5'- CCATGTTGAGGAACAGCACCATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation